Author(s): Muhammad Puri, Monica Badillo, Faisal Islam and Edward Hall
RSS is a congenital genetic disorder characterized by discrete aberrations in genes that account for growth and development. A number of genetic configurations may play a formative role in the development of RSS. The syndrome may result from: (1) Maternal uniparental disomy of chromosome 7 (matUPD7) - the child essentially inherits two copies of chromosome 7 from the maternal parent. This defect is found in 10% of cases. (2)Imprinting - a hypomethylation process for chromosome 11p15 is responsible for paternal expression of gene. Imprinting is responsible for 38% of cases. The genes that are known to be affected are H19 and IGF2. The H19 gene correlates with the phenotypic expression of skeletal abnormalities; the patient case presented below had corrective surgery for her scoliosis. The diagnosis of RSS is primarily based on clinical presentation. Prenatal genetic confirmation is available for intrauterine growth retardation (IUGR). Furthermore, researchers have elaborated upon the tangible association that exists between Russell-Silver Syndrome and Asperger Syndrome. Major depressive disorder often coincides with RSS; therefore it is of utmost importance for the clinician to adequately identify and treat depression in RSS children before it progresses to suicidal thoughts and/or psychosis. Objective: Our goal is to assess the clinical presentation of RSS within the context of comorbid conditions, in particular, MDD and Asperger's Syndrome (AS). The purpose of this case report is to highlight the importance of early recognition and management of individuals afflicted with RSS - to raise awareness for a congenital disorder that often coincides with serious symptoms of depression, including suicidal ideation and/or psychosis. Method: A literature search via PubMed and Google on the topics of RSS. Conclusion: RSS can present with clinical depression which also affects medical management, and patients should be carefully monitored for the development of new symptoms and/or side effects.
